Canonical Allele Identifier: CA2320963464

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529746_7529766delinsCCTGTGACCTTGTCATTGACA , CM000681.2:g.7529746_7529766delinsCCTGTGACCTTGTCATTGACA	GRCh38
NC_000019.9:g.7594632_7594652delinsCCTGTGACCTTGTCATTGACA , CM000681.1:g.7594632_7594652delinsCCTGTGACCTTGTCATTGACA	GRCh37
NC_000019.8:g.7500632_7500652delinsCCTGTGACCTTGTCATTGACA	NCBI36
NG_013374.1:g.595_615delinsCCTGTGACCTTGTCATTGACA
NG_015806.1:g.12137_12157delinsCCTGTGACCTTGTCATTGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+34_1359+54delinsCCTGTGACCTTGTCATTGACA MANE Select	ENSP00000264079.5:n.1359+34_1359+54delinsCCTGTGACCTTGTCATTGAC...
ENST00000264079.10:c.1359+34_1359+54delinsCCTGTGACCTTGTCATTGACA	ENSP00000264079.5:n.1359+34_1359+54delinsCCTGTGACCTTGTCATTGAC...
ENST00000394321.9:n.1674+34_1674+54delinsCCTGTGACCTTGTCATTGACA
ENST00000594692.1:n.355+34_355+54delinsCCTGTGACCTTGTCATTGACA
ENST00000595860.5:n.542+34_542+54delinsCCTGTGACCTTGTCATTGACA
ENST00000599334.1:c.236+34_236+54delinsCCTGTGACCTTGTCATTGACA
NM_020533.2:c.1359+34_1359+54delinsCCTGTGACCTTGTCATTGACA	NP_065394.1:n.1359+34_1359+54delinsCCTGTGACCTTGTCATTGACA
NM_020533.3:c.1359+34_1359+54delinsCCTGTGACCTTGTCATTGACA MANE Select	NP_065394.1:n.1359+34_1359+54delinsCCTGTGACCTTGTCATTGACA